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Title: Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations

Abstract

Independent phenylketonuria (PKU) chromosomes (n=109) representing 80% of a proband cohort in Quebec province carry 18 different identified mutations in 20 different mutation/haplotype combinations. The study reported here, the third in a series on Quebec populations, was done in the Montreal region and predominantly on French Canadians. It has identified three novel mutations (A309D, D338Y, and 1054/1055delG [352fs]) and one unusual mutation/RFLP haplotype combination (E280K on Hp 2). The relative frequencies and distribution of PKU mutations were then compared in three regions and population subsets (eastern Quebec, French Canadian; western Quebec, French Canadian; and Montreal, non-French Canadian). The distributions of the prevalent and rare mutations are nonrandom and provide evidence for genetic stratification. The latter and the presence of eight unusual mutation/haplotype combinations in Quebec families with European ancestries (the aforementioned four and M1V, 165T, S349P, and R408W on Hp 1) corroborate demographic and anthropologic evidence, from elsewhere, for different origins of French Canadians in eastern and western Quebec. 29 refs., 1 fig., 1 tab.

Authors:
; ;  [1];  [2];  [3]
  1. McGill Univ., Montreal (Canada)
  2. Hopital Ste-Justine, Montreal (Canada)
  3. Centre Hospitalier Universite Laval, Quebec (Canada)
Publication Date:
OSTI Identifier:
6811155
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 55:2; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; GENE MUTATIONS; DETECTION; HUMAN POPULATIONS; SCREENING; PHENYLALANINE; METABOLIC DISEASES; QUEBEC; AMINO ACIDS; CANADA; CARBOXYLIC ACIDS; DEVELOPED COUNTRIES; DISEASES; MUTATIONS; NORTH AMERICA; ORGANIC ACIDS; ORGANIC COMPOUNDS; POPULATIONS; 550400* - Genetics

Citation Formats

Rozen, R, Mascisch, A, Scriver, C R, Lambert, M, and Laframboise, R. Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations. United States: N. p., 1994. Web.
Rozen, R, Mascisch, A, Scriver, C R, Lambert, M, & Laframboise, R. Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations. United States.
Rozen, R, Mascisch, A, Scriver, C R, Lambert, M, and Laframboise, R. 1994. "Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations". United States.
@article{osti_6811155,
title = {Mutation profiles of phenylketonuria in Quebec populations: Evidence of stratification and novel mutations},
author = {Rozen, R and Mascisch, A and Scriver, C R and Lambert, M and Laframboise, R},
abstractNote = {Independent phenylketonuria (PKU) chromosomes (n=109) representing 80% of a proband cohort in Quebec province carry 18 different identified mutations in 20 different mutation/haplotype combinations. The study reported here, the third in a series on Quebec populations, was done in the Montreal region and predominantly on French Canadians. It has identified three novel mutations (A309D, D338Y, and 1054/1055delG [352fs]) and one unusual mutation/RFLP haplotype combination (E280K on Hp 2). The relative frequencies and distribution of PKU mutations were then compared in three regions and population subsets (eastern Quebec, French Canadian; western Quebec, French Canadian; and Montreal, non-French Canadian). The distributions of the prevalent and rare mutations are nonrandom and provide evidence for genetic stratification. The latter and the presence of eight unusual mutation/haplotype combinations in Quebec families with European ancestries (the aforementioned four and M1V, 165T, S349P, and R408W on Hp 1) corroborate demographic and anthropologic evidence, from elsewhere, for different origins of French Canadians in eastern and western Quebec. 29 refs., 1 fig., 1 tab.},
doi = {},
url = {https://www.osti.gov/biblio/6811155}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 55:2,
place = {United States},
year = {Mon Aug 01 00:00:00 EDT 1994},
month = {Mon Aug 01 00:00:00 EDT 1994}
}